Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female
BackgroundNuclear protein of the testis (NUT) carcinoma is a rare subset of poorly differentiated, highly aggressive malignancy defined by NUTM1 gene rearrangements. Only three NUT cases of probable ovarian origin have been reported.Case presentationWe report a case of NUT carcinoma in a 53-year-old...
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.1091877/full |
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| author | Huahua Jiang Huahua Jiang Chao Wang Chao Wang Zheng Hou Zheng Hou Yuxiang Wang Jie Qiao Jie Qiao Jie Qiao Jie Qiao Huajun Li Huajun Li |
| author_facet | Huahua Jiang Huahua Jiang Chao Wang Chao Wang Zheng Hou Zheng Hou Yuxiang Wang Jie Qiao Jie Qiao Jie Qiao Jie Qiao Huajun Li Huajun Li |
| author_sort | Huahua Jiang |
| collection | DOAJ |
| description | BackgroundNuclear protein of the testis (NUT) carcinoma is a rare subset of poorly differentiated, highly aggressive malignancy defined by NUTM1 gene rearrangements. Only three NUT cases of probable ovarian origin have been reported.Case presentationWe report a case of NUT carcinoma in a 53-year-old female who presented with extensive abdominopelvic lesions and bilateral ovarian masses suggestive of advanced ovarian cancer. This patient was admitted to our hospital due to abdominal pain and distension for over two months. Imaging examinations suggested a possible malignancy of bilateral adnexal origin. This patient first underwent diagnostic laparoscopy. After receiving neoadjuvant chemotherapy, she underwent cytoreductive surgery. Surgical pathology showed infiltration of monotonous round tumor cells with no apparent differentiation characteristics. Immunohistochemistry (IHC) revealed nuclear expression of the NUT protein. And MXI1::NUTM1 fusion was identified by next-generation sequencing (NGS). Herein, we introduce an unusual NUT carcinoma and describe the clinical, imaging, and pathological features. In addition, we briefly reviewed the published literature and discussed the possibility of primary gynecological NUT carcinoma.ConclusionsIdentifying a NUT carcinoma arising from the abdominopelvic cavity is essential, and we underscore the need for NUT testing in undifferentiated malignant neoplasms that appear in this clinical setting. Although it is unclear from which origin this tumor arose, proper classification is essential for treatment planning. |
| first_indexed | 2024-04-10T09:41:22Z |
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| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-10T09:41:22Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-e717de0d242943ac88b16e353042d1992023-02-17T09:17:36ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-01-011210.3389/fonc.2022.10918771091877Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged femaleHuahua Jiang0Huahua Jiang1Chao Wang2Chao Wang3Zheng Hou4Zheng Hou5Yuxiang Wang6Jie Qiao7Jie Qiao8Jie Qiao9Jie Qiao10Huajun Li11Huajun Li12Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaNational Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaDepartment of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaNational Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaDepartment of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaNational Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaDepartment of Pathology, School of Basic Medical Sciences, Third Hospital, Peking University Health Science Center, Beijing, ChinaDepartment of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaNational Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaBeijing Advanced Innovation Center for Genomics, Peking University, Beijing, ChinaPeking-Tsinghua Center for Life Sciences, Peking University, Beijing, ChinaDepartment of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaNational Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, ChinaBackgroundNuclear protein of the testis (NUT) carcinoma is a rare subset of poorly differentiated, highly aggressive malignancy defined by NUTM1 gene rearrangements. Only three NUT cases of probable ovarian origin have been reported.Case presentationWe report a case of NUT carcinoma in a 53-year-old female who presented with extensive abdominopelvic lesions and bilateral ovarian masses suggestive of advanced ovarian cancer. This patient was admitted to our hospital due to abdominal pain and distension for over two months. Imaging examinations suggested a possible malignancy of bilateral adnexal origin. This patient first underwent diagnostic laparoscopy. After receiving neoadjuvant chemotherapy, she underwent cytoreductive surgery. Surgical pathology showed infiltration of monotonous round tumor cells with no apparent differentiation characteristics. Immunohistochemistry (IHC) revealed nuclear expression of the NUT protein. And MXI1::NUTM1 fusion was identified by next-generation sequencing (NGS). Herein, we introduce an unusual NUT carcinoma and describe the clinical, imaging, and pathological features. In addition, we briefly reviewed the published literature and discussed the possibility of primary gynecological NUT carcinoma.ConclusionsIdentifying a NUT carcinoma arising from the abdominopelvic cavity is essential, and we underscore the need for NUT testing in undifferentiated malignant neoplasms that appear in this clinical setting. Although it is unclear from which origin this tumor arose, proper classification is essential for treatment planning.https://www.frontiersin.org/articles/10.3389/fonc.2022.1091877/fullNUT carcinomaovarian neoplasmsundifferentiated pelvic neoplasmscase reportNUT rearrangement |
| spellingShingle | Huahua Jiang Huahua Jiang Chao Wang Chao Wang Zheng Hou Zheng Hou Yuxiang Wang Jie Qiao Jie Qiao Jie Qiao Jie Qiao Huajun Li Huajun Li Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female Frontiers in Oncology NUT carcinoma ovarian neoplasms undifferentiated pelvic neoplasms case report NUT rearrangement |
| title | Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female |
| title_full | Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female |
| title_fullStr | Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female |
| title_full_unstemmed | Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female |
| title_short | Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female |
| title_sort | case report nut carcinoma with mxi1 nutm1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle aged female |
| topic | NUT carcinoma ovarian neoplasms undifferentiated pelvic neoplasms case report NUT rearrangement |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.1091877/full |
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